IthaID: 2190

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 62-83 (+65 bp)	HGVS Name:	HBB:c.187_251dup
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The 65bp duplication first reported in a 30-year-old Ghanaian male and later in a 31-year-old African-Canadian female and her father. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 109 residues. In all 3 cases, the duplication found in association with the common δ globin variant Hb A2' [IthaID:1356] and all presented with Hb A2' variant and normal levels of HbA2. These findings support that the 65bp duplication and the δ globin variant Hb A2' are in cis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	HbVar
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70911
Size:	65 bp
Located at:	β

Other details

Type of Mutation:	Duplication
Ethnic Origin:	Ghanaian, African-Canadian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007
Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L, Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C)., Hemoglobin , 37(2), 201-4, 2013

Created on 2013-09-30 17:07:53, Last reviewed on 2022-04-12 16:40:05 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-30 17:07:53	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2015-01-08 16:06:31	The IthaGenes Curation Team	Reviewed. Common name corrected.
4	2015-12-07 11:28:13	The IthaGenes Curation Team	Reviewed. Mutation type corrected
5	2017-01-24 12:53:57	The IthaGenes Curation Team	Reviewed. DNA Info updated.
6	2020-07-09 13:30:43	The IthaGenes Curation Team	Reviewed. HGVS name, Chromosome and locus location corrected. Comments added.
7	2020-07-09 13:32:15	The IthaGenes Curation Team	Reviewed.
8	2020-07-09 13:33:29	The IthaGenes Curation Team	Reviewed.
9	2020-07-09 13:56:15	The IthaGenes Curation Team	Reviewed. Common name corrected.
10	2021-01-20 10:04:13	The IthaGenes Curation Team	Reviewed. Common name and locus location corrected.
11	2021-10-20 15:30:06	The IthaGenes Curation Team	Reviewed. Reference and origin added.
12	2021-10-20 15:32:17	The IthaGenes Curation Team	Reviewed. Link added.
13	2022-04-12 16:40:05	The IthaGenes Curation Team	Reviewed. Comment added.

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